A46-03 Spontaneous Hemopneumothorax Foreshadowing Diagnosis of Vascular Ehlers-Danlos Syndrome

Abstract Ehlers-Danlos syndrome (EDS) is a group of heritable connective tissue disorders characterized by abnormalities in collagen structure and function and is divided into thirteen subtypes of which the five main ones are classic EDS, classic-like EDS, cardio-vascular EDS, vascular EDS (vEDS), and hypermobile EDS (1). Among its subtypes, vEDS is the most severe, with life-threatening complications including spontaneous pneumothorax and/or hemothorax (P/HTX). Notably, spontaneous P/HTX may serve as an initial manifestation of undiagnosed vEDS and eventually leading to arterial or intestinal complication. We report the case of a 24-year-old female with a history of joint hypermobility, hyperelastic skin, easy bruising, and menometrorrhagia who presented with dyspnea, hemoptysis, and pleuritic chest pain. She was found to have a 30-40% right sided hemopneumothorax with minimal right to left cardiomediastinal shift and a 1.9cm pulmonary cyst in the superior segment of right lower lobe evident on computed tomography (CT) of thorax as seen in the image below. The patient was diagnosed with a spontaneous hemopneumothorax for which she underwent surgical management with wedge resection and lobectomy. Pathology of the resected lobe reported findings consistent with veno-occlusive disease. Shortly after discharge, she was re-admitted with a recurrent pneumothorax, this time triggered by a sneeze. Following recovery, the patient underwent genetic testing, which confirmed the diagnosis of vEDS. This case underscores the importance of considering vEDS in the differential diagnosis of spontaneous P/HTX, particularly in patients exhibiting signs of connective tissue fragility. Early recognition and diagnosis are critical to guiding management and mitigating the risk of catastrophic complications, including vascular and gastrointestinal events. This abstract is funded by: None